New-Onset Monosomy 7-Induced Pancytopenia in a 66-Year-Old Woman

Area of Science:

• Hematology
• Genetics
• Oncology

Background:

• Myelodysplastic syndrome (MDS) involves hematopoietic stem cell dysfunction.
• Deletion of chromosome 7q is a common cytogenetic abnormality in MDS.
• Inherited 7q deletions often manifest in early childhood.

Observation:

• A 66-year-old female presented with incidental pancytopenia.
• Bone marrow biopsy confirmed MDS with monosomy 7.
• No personal or family history of MDS or hematological disorders was noted.

Findings:

• The patient's condition suggests a de novo loss of 7q.
• This occurred later in life, beyond the typical presentation age for inherited forms.
• Monosomy 7 in MDS indicates significant genetic alterations impacting hematopoiesis.

Implications:

• This case expands the understanding of 7q deletion in MDS etiology.
• It underscores the possibility of late-onset, sporadic 7q deletions.
• Further research into the mechanisms of de novo 7q loss in adult MDS is warranted.